Families with rare forms of diabetes gather to celebrate progress

First US forum gathers doctors and children who no longer need insulin

June 2, 2010

Twenty-five families who have overcome diabetes caused by a defect in a single gene will gather at "Celebrating the Miracles," a University of Chicago symposium for patients, parents and physicians. The first Monogenic Diabetes Forum is designed to review scientific studies, celebrate treatment successes, stress the importance of a genetic diagnosis for children diagnosed before age one, and exchange tips on how to make the most of a new concept--life without insulin injections.

The two-day symposium--from 1:15 pm on Thursday, July 8, to 4:15 pm on Friday, July 9--will take place at the University of Chicago's Gleacher Center, 455 CityFront Plaza, in downtown Chicago.

A separate symposium for physicians and scientists on clinical, biomedical and genetic advances follows from 8:30 am to 1:30 pm on Saturday, July 10.

Although single-gene or "monogenic" diabetes has interested scientists for years, it was often viewed by physicians as a laboratory curiosity. That changed in August 2006 when two research teams showed that a widely used, inexpensive medication developed for type 2 diabetes could restore normal insulin secretion in patients with what appeared to be type 1 diabetes when the disease was caused by one of two specific genetic flaws.

This meant that a small number of children diagnosed very early in life--before the age of one--could stop having their blood sugars constantly tested day and night and receiving multiple insulin shots. Instead, they swallow a few pills two or three times a day.

Because this life-altering discovery affected so few people, an estimated 2,000 cases in the United States, it did not immediately reach the parents of children with neonatal diabetes. But just as the studies were being published, Lilly Jaffe, a highly photogenic six-year-old girl from Chicago's northern suburbs, started taking her pills. Diagnosed at one month of age and reliant on insulin ever since, she was able to disconnect her insulin pump. A page-one story in the Chicago Tribune about Lilly's miraculous "cure" was soon being copied, passed around and emailed by the parents of children with early-onset diabetes.

"She quickly became the poster child for personalized medicine," said her doctor, diabetes specialist Louis Philipson, MD, PhD, professor of medicine at the University of Chicago. "Within a couple months we had begun the transition off of insulin for children from as far away as Alaska and Florida. Now we have a national registry of infants diagnosed before one year of age, patients from Central and South America, and 56 such treatment successes, many of them coming to Chicago for two days to celebrate their victory over diabetes, share their stories and trade tips."

"We still have work to do, though," Philipson said. "There are hundreds of patients with this treatable mutation that we have not yet found, and there are other mutations that may also become targets for this very specific approach to therapy."

The symposia bring together many of the leading experts in this small but growing field, including English researchers Frances Ashcroft, FRS, PhD, from Oxford University, and Sian Ellard, PhD, from Peninsula Medical School, authors of the 2006 study. Also presenting are Philipson and colleague Siri Greeley, MD, PhD, instructor of pediatrics at the University of Chicago, who have orchestrated the transition from shots to pills for most of the U.S. patients.

Patients and their families will also be featured. Lilly's mother, Laurie Jaffe, will tell her family's story, which she calls "The Unfolding of a Miracle." Other affected families will have the chance to describe their personal journeys from insulin to oral medication as part of a video diary, which will help explain the process to new families. A film crew working on a documentary about monogenic diabetes will record parts of the conference and interview families and physicians.

Among the families attending the July 8 symposium are:
Alissa, Geoff and Cameron Lundfelt (Alaska)
With no pediatric endocrinologist in the state, the trigger for diagnosis of Cameron's monogenic diabetes was a news story sent to the family by his grandmother's sister. Cameron soon became the second child after Lilly to come to the University of Chicago for his transition off insulin. As of February 10, 2007, he is no longer insulin dependent. His blood sugar dramatically improved, his parents report that he is making great strides in his development, even giggling in his sleep.

John, Jennifer and Adysen Colvin (Indiana)
A father and daughter with the same genetic flaw, John Colvin, 27, and his daughter Adysen, not yet 1 year old at the time, went off insulin together at the University of Chicago in March 2008. Growing up with diabetes was a struggle," recalled John, who spent several days in a diabetic coma at the age of 13 because he stopped taking his shots. "Adysen's life will be so much better. When she goes to a birthday party she can have a cupcake or even two if she wants. She is a normal healthy child."

Kristen, Steve and EthanVartanian (California)Ethan Vartanian of Yorba Linda, California, was just nine weeks old when diagnosed with diabetes in 2007 after a chest cold quickly progressed and put him in intensive care, with a blood sugar level over 800. Once he recovered from his infection his parents had to give him insulin shots every three hours, day and night. A magazine article led his parents to the possibility of monogenic diabetes. The Chicago team confirmed the genetic defect and directed his physicians in Los Angeles as they monitored the transition. "I still get chills about it," said his endocrinologist, Jody Krantz, MD, of Children's Hospital of Orange County. "We gave him his first dose and the blood sugar numbers were perfect. It told me this is going to work."

Douglas, Ailyn and Evan Hemminger (Florida)Just three months old, Evan Hemminger, with a blood sugar level over 800, was diagnosed March 3, 2008. "Diabetes ruled our life," his mother Ailyn remembers. "With infants, you don't know if they're crying because they're just a baby, or if they're low or high." On May 27, his parents found out that Evan had monogenic diabetes. On July 20, 2008, they flew into Chicago. "We gave Evan his last shot of insulin on July 21 at 6:00 am, right before we checked in," Ailyn said. "He never needed insulin again. I can't even begin to describe what a blessing it is."